ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375267
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434667
ClinVar RCV Id:
RCV000499664
RCV001522975
RCV003159620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Ala953Ser
CA10360734
NM_003159.2:c.2857G>T